ClinVar Miner

List of variants in gene ATRX reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598 0.00080
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=) rs149960511 0.00056
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002 0.00024
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_000489.6(ATRX):c.3987A>G (p.Glu1329=) rs147160114 0.00021
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_000489.6(ATRX):c.4215-5G>A rs111833322 0.00018
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507 0.00011
NM_000489.6(ATRX):c.1256C>T (p.Ala419Val) rs374958282 0.00010
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His) rs782386546 0.00010
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015 0.00009
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.1798A>G (p.Ile600Val) rs375129029 0.00008
NM_000489.6(ATRX):c.2530A>G (p.Thr844Ala) rs142601264 0.00008
NM_000489.6(ATRX):c.4810-3T>C rs370596323 0.00008
NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys) rs150484080 0.00007
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.189G>A (p.Glu63=) rs587778082 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.3972A>G (p.Ser1324=) rs782638271 0.00006
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=) rs781984385 0.00006
NM_000489.6(ATRX):c.1077G>T (p.Leu359=) rs782504858 0.00005
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly) rs148513102 0.00005
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136 0.00005
NM_000489.6(ATRX):c.1041T>G (p.Ile347Met) rs199780997 0.00004
NM_000489.6(ATRX):c.1047C>G (p.Pro349=) rs200288042 0.00004
NM_000489.6(ATRX):c.1625T>C (p.Val542Ala) rs782158232 0.00004
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln) rs782181535 0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp) rs782123222 0.00004
NM_000489.6(ATRX):c.2922C>T (p.Ser974=) rs1476227727 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.6640T>G (p.Leu2214Val) rs782396522 0.00004
NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=) rs782527659 0.00004
NM_000489.6(ATRX):c.913A>G (p.Ser305Gly) rs782778928 0.00004
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 0.00003
NM_000489.6(ATRX):c.2763C>T (p.Val921=) rs782004945 0.00003
NM_000489.6(ATRX):c.3067G>C (p.Glu1023Gln) rs367700285 0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745 0.00003
NM_000489.6(ATRX):c.35A>G (p.Asn12Ser) rs782399326 0.00003
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568 0.00003
NM_000489.6(ATRX):c.4366G>A (p.Glu1456Lys) rs782646619 0.00003
NM_000489.6(ATRX):c.2010T>C (p.Thr670=) rs1398783862 0.00002
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser) rs782196312 0.00002
NM_000489.6(ATRX):c.2815G>C (p.Val939Leu) rs149195735 0.00002
NM_000489.6(ATRX):c.5184A>G (p.Ala1728=) rs782211965 0.00002
NM_000489.6(ATRX):c.6252C>T (p.Tyr2084=) rs1557069206 0.00002
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478 0.00002
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=) rs375935735 0.00002
NM_000489.6(ATRX):c.7083C>T (p.Asn2361=) rs3027525 0.00002
NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr) rs147341551 0.00002
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu) rs951634317 0.00001
NM_000489.6(ATRX):c.1246G>A (p.Glu416Lys) rs782253905 0.00001
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg) rs782163488 0.00001
NM_000489.6(ATRX):c.139A>G (p.Ile47Val) rs782584831 0.00001
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp) rs782283059 0.00001
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.2890A>G (p.Ile964Val) rs1271635013 0.00001
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.4047C>T (p.Asp1349=) rs199625659 0.00001
NM_000489.6(ATRX):c.4073C>T (p.Thr1358Ile) rs1557124033 0.00001
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile) rs1045875195 0.00001
NM_000489.6(ATRX):c.5542C>G (p.Gln1848Glu) rs1557096992 0.00001
NM_000489.6(ATRX):c.5591G>T (p.Gly1864Val) rs151220806 0.00001
NM_000489.6(ATRX):c.5811G>A (p.Gly1937=) rs1557085888 0.00001
NM_000489.6(ATRX):c.5927A>G (p.Asn1976Ser) rs782151425 0.00001
NM_000489.6(ATRX):c.6489T>C (p.Tyr2163=) rs782352246 0.00001
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1162A>G (p.Lys388Glu)
NM_000489.6(ATRX):c.1183T>G (p.Phe395Val) rs1569539366
NM_000489.6(ATRX):c.1264G>A (p.Ala422Thr) rs1424850007
NM_000489.6(ATRX):c.1286C>A (p.Thr429Asn)
NM_000489.6(ATRX):c.1290A>G (p.Lys430=) rs1569539312
NM_000489.6(ATRX):c.1430A>G (p.Asn477Ser)
NM_000489.6(ATRX):c.1432G>A (p.Val478Ile)
NM_000489.6(ATRX):c.1441G>A (p.Glu481Lys)
NM_000489.6(ATRX):c.1694T>C (p.Ile565Thr) rs1557140924
NM_000489.6(ATRX):c.1718G>A (p.Gly573Asp)
NM_000489.6(ATRX):c.2277A>G (p.Thr759=) rs2148602323
NM_000489.6(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.6(ATRX):c.2320G>C (p.Asp774His) rs1557139871
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln) rs1603220762
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.2599A>C (p.Asn867His)
NM_000489.6(ATRX):c.2758G>T (p.Gly920Cys)
NM_000489.6(ATRX):c.2810G>A (p.Arg937Lys) rs2071268459
NM_000489.6(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly) rs1557138081
NM_000489.6(ATRX):c.3278G>T (p.Arg1093Met)
NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)
NM_000489.6(ATRX):c.344A>T (p.Asp115Val)
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.6(ATRX):c.370+5T>C rs1557149836
NM_000489.6(ATRX):c.3851T>G (p.Leu1284Arg)
NM_000489.6(ATRX):c.3883G>A (p.Glu1295Lys)
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.6(ATRX):c.4214+19A>T
NM_000489.6(ATRX):c.4275G>A (p.Arg1425=) rs1569535653
NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del) rs782410402
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.4557+5C>G
NM_000489.6(ATRX):c.4957-3A>G
NM_000489.6(ATRX):c.497A>G (p.His166Arg)
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.6(ATRX):c.5311G>C (p.Gly1771Arg) rs1569531574
NM_000489.6(ATRX):c.5380A>G (p.Met1794Val)
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5686A>G (p.Lys1896Glu) rs1569528925
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.5787-24GTTT[6] rs782072699
NM_000489.6(ATRX):c.5832T>A (p.Ser1944Arg) rs2066591709
NM_000489.6(ATRX):c.583_585del (p.Leu195del)
NM_000489.6(ATRX):c.5863A>G (p.Ile1955Val)
NM_000489.6(ATRX):c.6003G>A (p.Trp2001Ter) rs1557082399
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.6(ATRX):c.6406G>A (p.Asp2136Asn) rs2064896365
NM_000489.6(ATRX):c.6409G>A (p.Ala2137Thr) rs1557060350
NM_000489.6(ATRX):c.6472A>G (p.Lys2158Glu)
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.6(ATRX):c.662+3A>G
NM_000489.6(ATRX):c.6862C>T (p.Arg2288Cys)
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.6(ATRX):c.7157G>A (p.Arg2386Gln)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu) rs1603226766
NM_000489.6(ATRX):c.740A>G (p.Asn247Ser) rs797044865
NM_000489.6(ATRX):c.793T>C (p.Cys265Arg) rs2071442345

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